Varaico: Literature-Extracted Genetic Variants

Gene:NAGPA
Variant:p.P41_R44delFs

NAGPA

55 papers

RefSeq Summary

Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the m...

Pfam Domains

NAGPAaa 130–325UCSCPhosphodiester glycosidase

Gene Aliases

HGNC Name

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

HGNC Alias Symbols

APAA; UCE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016256.4
p.P41_R44delFs
c.123_130del8
Surrounding Variants
1 paper
NM_016256.4
p.R44P
c.131G>C
1 paper
NM_016256.4
p.R44fs
c.130_131fs
1 paper
NM_016256.4
p.R46G
c.136C>G
1 paper
NM_016256.4
p.R46L
c.137G>T
1 paper
NM_016256.4
p.R42H
c.125G>A
1 paper
NM_016256.4
p.R46fs
c.136_137fs
1 paper
NM_016256.4
p.L47F
c.139C>T
1 paper
NM_016256.4
p.R46delFs
c.137_138delGC
1 paper
NM_016256.4
p.A30V
c.89C>T
1 paper
NM_016256.4
p.N58N
c.174C>T
1 paper
NM_016256.4
p.G75S
c.223G>A
1 paper
NM_016256.4
p.L76Q
c.227T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."